Spinal And Bulbar Muscular Atrophy, X-linked 1; Smax1

Description

Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

Clinical Features

Top most frequent phenotypes and symptoms related to Spinal And Bulbar Muscular Atrophy, X-linked 1; Smax1

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance
  • Dysphagia

And another 52 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Spinal And Bulbar Muscular Atrophy, X-linked 1; Smax1 Is also known as kd, bulbospinal neuronopathy, x-linked recessive, xbsn, spinal and bulbar muscular atrophy, kennedy disease, bulbospinal muscular atrophy, x-linked, sbma, kennedy spinal and bulbar muscular atrophy.

Researches and researchers

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Spinal And Bulbar Muscular Atrophy, X-linked 1; Smax1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AR Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

AR
Specificity
100 %
Genes
100 %
AR Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

AR
Specificity
100 %
Genes
100 %
AR Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

AR
Specificity
100 %
Genes
100 %
Kennedy's Disease (SBMA) DNA Test.

By Athena Diagnostics Inc (United States).

AR
Specificity
100 %
Genes
100 %
X-Inactivation Studies.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

AR
Specificity
100 %
Genes
100 %
Kennedy disease.

By Center for Human Genetics, Inc (United States).

AR
Specificity
100 %
Genes
100 %
Androgen Insensitiviy.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

AR
Specificity
100 %
Genes
100 %
Kennedy's Syndrome PCR.

By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).

AR
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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